منابع مشابه
Xxxviii. Metabolic Studies in Phenylketonuria
F6LLING [1934] discovered that, in certain cases of mental deficiency, phenylpyruvic acid was excreted in the urine. His attention was drawn to the phenomenon by the characteristic colour produced by the addition of ferric chloride solution to the urines of these patients, and he identified the responsible substance as phenylpyruvic acid. Other cases have since been recognized [Penrose, 1935]. ...
متن کاملMetabolic syndrome in children and adolescents with phenylketonuria.
OBJECTIVE This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). METHODS This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin....
متن کاملRecent studies on galactosaemia, phenylketonuria and homocystinuria.
Galactosaemia, phenylketonuria and homocystinuria are inborn errors of metabolism as the term was defined by Garrod (1908). I n all three lack of an enzyme causes a metabolic block and accumulation of the substrate of the missing enzyme, and all three are inherited as Mendelian recessive characters. Unlike Garrod's original examples, galactosaemia, phenylketonuria and homocystinuria are often a...
متن کاملStudies on phenylketonuria. II. The excretion of o-hydroxyphenylacetic acid in phenylketonuria.
Phenylketonuria (phenylpyruvic oligophrenia) is an inherited condition in the human in which the ability of the liver to oxidize phenylalanine to tyrosine is impaired (2). Because this pathway represents the major, although not the only, manner in which phenylalanine is metabolized in mammals, considerable amounts of phenylalanine accumulate in the blood and tissues of affected individuals, and...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1937
ISSN: 0306-3283
DOI: 10.1042/bj0310266